Ocular manifestations and pathology of systemic mucopolysaccharidoses

In summary, the histologic and ultrastructural pathology of the systemic mucopolysaccharidoses has been reviewed as they involve four aspects of the eye: 1) Conjunctival biopsy provides an excellent demonstration of the lysosomal storage lesion and may also afford diagnostic and therapeutic information. 2) Corneal clouding appears to be related to the degree of stromal acid mucopolysaccharide accumulation. 3) Retinal pigmentary degenerative changes are morphologically identical to those of other retinitis pigmentosa syndromes and may be the result of a primary disturbance of pigment epithelial function. 4) Optic nerve involvement may occur by several mechanisms, of which ophthalmologists should remain clinically aware in order to provide appropriate therapy.